FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886039903
rs886039903 		0.807 0.200 3 192335434 missense variant C/T snv
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.800 0
dbSNP: rs12107377
rs12107377 		3 192433028 intron variant G/A snv 0.56
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1553798675
rs1553798675 		0.925 0.080 3 192335441 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1553798675
rs1553798675 		0.925 0.080 3 192335441 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553798675
rs1553798675 		0.925 0.080 3 192335441 missense variant C/T snv
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553798675
rs1553798675 		0.925 0.080 3 192335441 missense variant C/T snv
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 1.000 1 2016 2016
dbSNP: rs1827545
rs1827545 		1.000 0.040 3 192596737 intron variant A/G snv 0.22
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1827546
rs1827546 		1.000 0.040 3 192596666 intron variant A/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1875730
rs1875730 		1.000 0.040 3 192595449 intron variant G/A snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1875731
rs1875731 		1.000 0.040 3 192595268 intron variant G/T snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1875732
rs1875732 		1.000 0.040 3 192595246 intron variant A/G snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs189326995
rs189326995 		3 192657709 intron variant T/C snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs2134634
rs2134634 		1.000 0.040 3 192597670 intron variant G/A snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2174178
rs2174178 		1.000 0.040 3 192597376 intron variant A/G snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2654689
rs2654689 		1.000 0.040 3 192597610 intron variant C/G snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2654693
rs2654693 		1.000 0.040 3 192596196 intron variant C/T snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2708309
rs2708309 		1.000 0.040 3 192597278 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4453795
rs4453795 		3 192376186 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2008 2008
dbSNP: rs4453795
rs4453795 		3 192376186 intron variant A/G;T snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2008 2008
dbSNP: rs886039903
rs886039903 		0.807 0.200 3 192335434 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886039903
rs886039903 		0.807 0.200 3 192335434 missense variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886039903
rs886039903 		0.807 0.200 3 192335434 missense variant C/T snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039903
rs886039903 		0.807 0.200 3 192335434 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.020 1.000 2 2019 2019
dbSNP: rs1460922
rs1460922 		1.000 0.080 3 192143732 3 prime UTR variant A/G;T snv
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17852067
rs17852067 		1.000 0.080 3 192144109 missense variant G/T snv
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017